ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly)

dbSNP: rs1170792905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542715 SCV000644268 benign Tuberous sclerosis 2 2023-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395406 SCV002704022 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-14 criteria provided, single submitter clinical testing The p.D549G variant (also known as c.1646A>G), located in coding exon 15 of the TSC2 gene, results from an A to G substitution at nucleotide position 1646. The aspartic acid at codon 549 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003314613 SCV004014182 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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